Why do I want to share my genetic data?

This is a guest post by Craig Macpherson about why he wants to share his genetic data. He is the founder and editor of DNA Testing Choice, a reviews site for the DNA tests you can take at home.

Why have I recently had my Whole Genome Sequencing (WGS) done, and why do I want to make this data publicly available? Let me take you back a few years so I can answer this question…

Although I founded DNA Testing Choice two years ago, I actually came up with the idea in 2010 when I read an article in The Times. A journalist had taken three home DNA tests to establish his genetic predisposition to glaucoma. The results of these tests were broadly similar, but the interpretation of his genetic variants differed significantly. This raised two interesting questions for me, 1) ‘how would I work out which home DNA test to take, given the complex nature of the service?’, and 2) ‘how would I verify the interpretation I received?’ The first question inspired the site, the second inspired me to buy my WGS.

It seemed to me that those taking home DNA tests should be able to separate the raw genetic data from the analysis. Theoretically, your raw data should be the same regardless of which company is testing you – I know this statement makes dozens of assumptions such as ‘the companies are looking for the same thing in the same way’ but bear with me. On the other hand, interpretations of the raw data are going to differ – it requires experts who’re up to date with the latest research, and who’re aware of the limitations of the studies that back-up the associations. This human element means that interpretations are inescapably subjective.

Therefore, to get the absolute best from your home DNA test, you should be able to take the raw data produced as a by-product of the test, and give it to third parties to validate and compare interpretations. If you’re making serious decisions based on these results, it’s clear to me that this facility must exist. One thing I’d like to clarify, if the home DNA test you take is capable of producing results with medical repercussions (e.g. it gives your genetic predisposition to prostate cancer), I fully advocate the requirement for genetic counselling pre and post-test, along with a number of other safeguards. That said, in the digital age where dozens of tools exist to analyse your raw data without these safeguards, the ability to validate and compare interpretations becomes very important.

So, I bought my WGS for $750 and have begun to look for the SNPs I’ve been told I carry by 60 other home DNA testing companies (I review every home DNA test for DNA Testing Choice as an ‘Editor’s Review’, hence why I’ve taken so many!) In addition, I wanted to share my WGS and the process I’ve gone through to validate and compare my results with the wider community.

For a full account of what I’ve done with my WGS, you can read my review here, but in short, I’ve uploaded my data to OpenSNP (a site that allows you to share your raw data, find others with similar genetic variations, read the latest research on your variations, and help scientists find new associations), and Promethease (a tool that builds a personal report based on the scientific literature cited in SNPedia). I’m also working with Repositive to make my raw data discoverable and available to research institutions.

To sum up, I feel everybody who takes a home DNA test should be able to do what I’ve done, and I wanted to share my raw data (and my experience) to that end. As awareness builds around genetic data and what you can do with it, I don’t think there’ll be a point where people run out to buy their WGS. Instead, I believe there’ll be a gradual realisation by those taking home DNA tests (it’s estimated that 4 million have already) that there’s more they can do with their raw data, fuelled by advertising from a growing number of consumer genetics companies.

DNA Testing Choice already helps people decide which home DNA tests to take, but we also want to help people verify their results, and empower them to make their raw data available to research institutions. In this way, we can accelerate genomic research on a global scale and realise a host of medical benefits sooner rather than later.

Are you part of a project that facilitates data sharing for genomics or other related research?

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